Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108578081_108578088del | CA2695235187 | COL4A5 | c.649_656del (p.Asn217LeufsTer9) c.325_332del (p.Asn109LeufsTer9) c.664_671del (p.Asn222LeufsTer9) | |
X | g.108578087G>A | CA258308 | COL4A5 | c.655G>A (p.Gly219Ser) c.331G>A (p.Gly111Ser) c.670G>A (p.Gly224Ser) | ClinVar dbSNP |
X | g.108578087G>C | CA413923557 | COL4A5 | c.655G>C (p.Gly219Arg) c.331G>C (p.Gly111Arg) c.670G>C (p.Gly224Arg) | |
X | g.108578087G= | CA2450682222 | COL4A5 | c.655G= (p.Gly219=) c.331G= (p.Gly111=) c.670G= (p.Gly224=) | |
X | g.108578087G>T | CA413923540 | COL4A5 | c.655G>T (p.Gly219Cys) c.331G>T (p.Gly111Cys) c.670G>T (p.Gly224Cys) | |
X | g.108578088G>A | CA413923568 | COL4A5 | c.656G>A (p.Gly219Asp) c.332G>A (p.Gly111Asp) c.671G>A (p.Gly224Asp) | |
X | g.108578088G>C | CA413923569 | COL4A5 | c.656G>C (p.Gly219Ala) c.332G>C (p.Gly111Ala) c.671G>C (p.Gly224Ala) | |
X | g.108578088G>T | CA413923570 | COL4A5 | c.656G>T (p.Gly219Val) c.332G>T (p.Gly111Val) c.671G>T (p.Gly224Val) | |
X | g.108578089C>A | CA517991749 | COL4A5 | c.657C>A (p.Gly219=) c.333C>A (p.Gly111=) c.672C>A (p.Gly224=) | gnomAD v4 |
X | g.108578089C>G | CA517991750 | COL4A5 | c.657C>G (p.Gly219=) c.333C>G (p.Gly111=) c.672C>G (p.Gly224=) | |
X | g.108578089C>T | CA517991751 | COL4A5 | c.657C>T (p.Gly219=) c.333C>T (p.Gly111=) c.672C>T (p.Gly224=) | |
X | g.108578090T>A | CA413923571 | COL4A5 | c.658T>A (p.Leu220Ile) c.334T>A (p.Leu112Ile) c.673T>A (p.Leu225Ile) | |
X | g.108578090T>C | CA517991752 | COL4A5 | c.658T>C (p.Leu220=) c.334T>C (p.Leu112=) c.673T>C (p.Leu225=) | |
X | g.108578090T>G | CA413923572 | COL4A5 | c.658T>G (p.Leu220Val) c.334T>G (p.Leu112Val) c.673T>G (p.Leu225Val) | |
X | g.108578091T>A | CA413923574 | COL4A5 | c.659T>A (p.Leu220Ter) c.335T>A (p.Leu112Ter) c.674T>A (p.Leu225Ter) | ClinVar dbSNP |
X | g.108578091T>C | CA413923575 | COL4A5 | c.659T>C (p.Leu220Ser) c.335T>C (p.Leu112Ser) c.674T>C (p.Leu225Ser) | |
X | g.108578091T>G | CA413923576 | COL4A5 | c.659T>G (p.Leu220Ter) c.335T>G (p.Leu112Ter) c.674T>G (p.Leu225Ter) | ClinVar dbSNP |
X | g.108578091T= | CA2450682223 | COL4A5 | c.659T= (p.Leu220=) c.335T= (p.Leu112=) c.674T= (p.Leu225=) | |
X | g.108578092A>C | CA413923577 | COL4A5 | c.660A>C (p.Leu220Phe) c.336A>C (p.Leu112Phe) c.675A>C (p.Leu225Phe) | |
X | g.108578092A>G | CA517991753 | COL4A5 | c.660A>G (p.Leu220=) c.336A>G (p.Leu112=) c.675A>G (p.Leu225=) | |
X | g.108578092A>T | CA413923580 | COL4A5 | c.660A>T (p.Leu220Phe) c.336A>T (p.Leu112Phe) c.675A>T (p.Leu225Phe) | |
X | g.108578094del | CA2695235188 | COL4A5 | c.662del (p.Asn221IlefsTer?) c.338del (p.Asn113IlefsTer?) c.677del (p.Asn226IlefsTer?) | |
X | g.108578093A= | CA2450682224 | COL4A5 | c.661A= (p.Asn221=) c.337A= (p.Asn113=) c.676A= (p.Asn226=) | |
X | g.108578093A>C | CA413923587 | COL4A5 | c.661A>C (p.Asn221His) c.337A>C (p.Asn113His) c.676A>C (p.Asn226His) | |
X | g.108578093A>G | CA413923591 | COL4A5 | c.661A>G (p.Asn221Asp) c.337A>G (p.Asn113Asp) c.676A>G (p.Asn226Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578093A>T | CA413923598 | COL4A5 | c.661A>T (p.Asn221Tyr) c.337A>T (p.Asn113Tyr) c.676A>T (p.Asn226Tyr) | |
X | g.108578094A>C | CA413923606 | COL4A5 | c.662A>C (p.Asn221Thr) c.338A>C (p.Asn113Thr) c.677A>C (p.Asn226Thr) | |
X | g.108578094A>G | CA413923611 | COL4A5 | c.662A>G (p.Asn221Ser) c.338A>G (p.Asn113Ser) c.677A>G (p.Asn226Ser) | COSMIC COSMIC |
X | g.108578094A>T | CA413923601 | COL4A5 | c.662A>T (p.Asn221Ile) c.338A>T (p.Asn113Ile) c.677A>T (p.Asn226Ile) | |
X | g.108578095T>A | CA413923620 | COL4A5 | c.663T>A (p.Asn221Lys) c.339T>A (p.Asn113Lys) c.678T>A (p.Asn226Lys) | |
X | g.108578095T>C | CA517991754 | COL4A5 | c.663T>C (p.Asn221=) c.339T>C (p.Asn113=) c.678T>C (p.Asn226=) | |
X | g.108578095T>G | CA413923622 | COL4A5 | c.663T>G (p.Asn221Lys) c.339T>G (p.Asn113Lys) c.678T>G (p.Asn226Lys) | |
X | g.108578096T>A | CA413923626 | COL4A5 | c.664T>A (p.Phe222Ile) c.340T>A (p.Phe114Ile) c.679T>A (p.Phe227Ile) | |
X | g.108578096T>C | CA413923638 | COL4A5 | c.664T>C (p.Phe222Leu) c.340T>C (p.Phe114Leu) c.679T>C (p.Phe227Leu) | |
X | g.108578096T>G | CA413923631 | COL4A5 | c.664T>G (p.Phe222Val) c.340T>G (p.Phe114Val) c.679T>G (p.Phe227Val) | |
X | g.108578097T>A | CA413923642 | COL4A5 | c.665T>A (p.Phe222Tyr) c.341T>A (p.Phe114Tyr) c.680T>A (p.Phe227Tyr) | |
X | g.108578097T>C | CA413923644 | COL4A5 | c.665T>C (p.Phe222Ser) c.341T>C (p.Phe114Ser) c.680T>C (p.Phe227Ser) | |
X | g.108578097T>G | CA261044 | COL4A5 | c.665T>G (p.Phe222Cys) c.341T>G (p.Phe114Cys) c.680T>G (p.Phe227Cys) | ClinVar dbSNP |
X | g.108578097T= | CA2450682225 | COL4A5 | c.665T= (p.Phe222=) c.341T= (p.Phe114=) c.680T= (p.Phe227=) | |
X | g.108578098C>A | CA413923646 | COL4A5 | c.666C>A (p.Phe222Leu) c.342C>A (p.Phe114Leu) c.681C>A (p.Phe227Leu) | |
X | g.108578098C>G | CA413923651 | COL4A5 | c.666C>G (p.Phe222Leu) c.342C>G (p.Phe114Leu) c.681C>G (p.Phe227Leu) | gnomAD v4 |
X | g.108578098C>T | CA517991755 | COL4A5 | c.666C>T (p.Phe222=) c.342C>T (p.Phe114=) c.681C>T (p.Phe227=) | gnomAD v4 COSMIC COSMIC |
X | g.108578099C>A | CA413923655 | COL4A5 | c.667C>A (p.Gln223Lys) c.343C>A (p.Gln115Lys) c.682C>A (p.Gln228Lys) | |
X | g.108578099C= | CA2450682226 | COL4A5 | c.667C= (p.Gln223=) c.343C= (p.Gln115=) c.682C= (p.Gln228=) | |
X | g.108578099C>G | CA413923663 | COL4A5 | c.667C>G (p.Gln223Glu) c.343C>G (p.Gln115Glu) c.682C>G (p.Gln228Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578099C>T | CA413923669 | COL4A5 | c.667C>T (p.Gln223Ter) c.343C>T (p.Gln115Ter) c.682C>T (p.Gln228Ter) | |
X | g.108578100del | CA2579675938 | COL4A5 | c.668del (p.Gln223ArgfsTer?) c.344del (p.Gln115ArgfsTer?) c.683del (p.Gln228ArgfsTer?) | |
X | g.108578100A>C | CA413923671 | COL4A5 | c.668A>C (p.Gln223Pro) c.344A>C (p.Gln115Pro) c.683A>C (p.Gln228Pro) | |
X | g.108578100A>G | CA413923672 | COL4A5 | c.668A>G (p.Gln223Arg) c.344A>G (p.Gln115Arg) c.683A>G (p.Gln228Arg) | gnomAD v4 |
X | g.108578100A>T | CA413923673 | COL4A5 | c.668A>T (p.Gln223Leu) c.344A>T (p.Gln115Leu) c.683A>T (p.Gln228Leu) |